Evidence map›Paper›PMID 41561060›Full record

ArticleFrontiers in endocrinology2025

Growth hormone deficiency in three siblings homozygous for a rare

Ana Cláudia Ribeiro, Omneya Magdy Omar, Ebtesam Abdalla, Manuel Carlos Lemos

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PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in endocrinology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
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1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

4 authors.

Ana Cláudia RibeiroRISE-Health, Faculty of Health Sciences, University of Beira Interior, Covilhã, Portugal.
Omneya Magdy OmarDepartment of Pediatrics, Faculty of Medicine, Alexandria University, Alexandria, Egypt.
Ebtesam AbdallaDepartment of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt.
Manuel Carlos LemosRISE-Health, Faculty of Health Sciences, University of Beira Interior, Covilhã, Portugal.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: Growth Hormone (GH), secreted by the anterior pituitary gland, is a key regulator of postnatal growth. Mutations in the Methods: Three siblings were diagnosed with short stature due to GH deficiency (stimulated GH peak levels between 0.07 and 0.77 µg/L). To identify their genetic cause, whole-exome sequencing (WES), multiplex ligation-dependent probe amplification (MLPA), and targeted Results: A shared homozygous Conclusion: Our findings suggest that this haplotype likely underlies the GH deficiency observed in the affected siblings. This represents the first report linking a homozygous

Indexed as

Dwarfism, PituitaryHaplotypesHuman Growth HormoneChildFemaleHomozygoteHumansMaleMutationPedigreePolymorphism, Single NucleotideSiblingsHuman Growth HormoneGH1GH deficiencygrowth hormone deficiencyhaplotypeIGHDpromoter polymorphismtranscriptional regulation

Identifiers

PMID41561060
PMCPMC12812537

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.